A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2152



Internal ID15546715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77711691..77744801hg38UCSC Ensembl
Outerchr17:75707773..75740883hg19UCSC Ensembl
Outerchr17:73219368..73252478hg18UCSC Ensembl
Outerchr17:73219368..73252478hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg386128
hg196128
hg186128
hg176128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5679
SamplesNA19129
Known GenesLOC100132174
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv2152
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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